Canonical Allele Identifier: CA408564408

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145392010
• MyVariant Identifiers: chr20:g.31024600C>A (hg19) ; chr20:g.32436797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436797C>A , CM000682.2:g.32436797C>A	GRCh38
NC_000020.10:g.31024600C>A , CM000682.1:g.31024600C>A	GRCh37
NC_000020.9:g.30488261C>A	NCBI36
NG_027868.1:g.83454C>A , LRG_630:g.83454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4085C>A MANE Select	ENSP00000364839.4:p.Ala1362Asp
ENST00000646985.1:c.3902C>A	ENSP00000495053.1:p.Ala1301Asp
ENST00000647223.1:n.6438C>A
ENST00000651418.1:c.1870-1633C>A	ENSP00000499150.1:n.1870-1633C>A
ENST00000306058.9:c.4070C>A	ENSP00000305119.5:p.Ala1357Asp
ENST00000375687.8:c.4085C>A	ENSP00000364839.4:p.Ala1362Asp
ENST00000613218.4:c.4085C>A	ENSP00000480487.1:p.Ala1362Asp
ENST00000620121.4:c.4085C>A	ENSP00000481978.1:p.Ala1362Asp
NM_015338.5:c.4085C>A , LRG_630t1:c.4085C>A	NP_056153.2:p.Ala1362Asp
XM_006723727.2:c.4082C>A	XP_006723790.1:p.Ala1361Asp
XM_006723728.2:c.4055C>A	XP_006723791.1:p.Ala1352Asp
XM_006723730.2:c.4001C>A	XP_006723793.1:p.Ala1334Asp
XM_006723732.2:c.3902C>A	XP_006723795.1:p.Ala1301Asp
XM_006723733.1:c.3401C>A	XP_006723796.1:p.Ala1134Asp
XM_011528647.1:c.4349C>A	XP_011526949.1:p.Ala1450Asp
XM_011528648.1:c.4346C>A	XP_011526950.1:p.Ala1449Asp
XM_011528649.1:c.4265C>A	XP_011526951.1:p.Ala1422Asp
XM_011528650.1:c.4196C>A	XP_011526952.1:p.Ala1399Asp
XM_011528651.1:c.4064C>A	XP_011526953.1:p.Ala1355Asp
XM_011528652.1:c.4001C>A	XP_011526954.1:p.Ala1334Asp
NM_001363734.1:c.3902C>A	NP_001350663.1:p.Ala1301Asp
XM_006723727.3:c.4082C>A	XP_006723790.1:p.Ala1361Asp
XM_006723728.3:c.4055C>A	XP_006723791.1:p.Ala1352Asp
XM_006723730.4:c.4001C>A	XP_006723793.1:p.Ala1334Asp
XM_011528648.3:c.4346C>A	XP_011526950.1:p.Ala1449Asp
XM_011528652.2:c.4001C>A	XP_011526954.1:p.Ala1334Asp
XM_017027704.1:c.4001C>A	XP_016883193.1:p.Ala1334Asp
XM_017027705.1:c.4001C>A	XP_016883194.1:p.Ala1334Asp
XM_017027706.1:c.3932C>A	XP_016883195.1:p.Ala1311Asp
NM_015338.6:c.4085C>A MANE Select	NP_056153.2:p.Ala1362Asp